| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209629860_209629861insATGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCCTTGTCACACACACCTCCATATGCCCC | CA1011768218 | LAMB3 | c.1034_1035insGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCATGGGGCATATGGAGGTGTGTGTGACAA (p.Asn345LysfsTer?) c.842_843insGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCATGGGGCATATGGAGGTGTGTGTGACAA (p.Asn281LysfsTer?) | gnomAD v3 gnomAD v4 |
| 1 | g.209629835_209629911dup | CA10602754 | LAMB3 | c.958_1034dup (p.Asn345LysfsTer?) c.766_842dup (p.Asn281LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629839C>A | CA344592561 | LAMB3 | c.1030G>T (p.Asp344Tyr) c.838G>T (p.Asp280Tyr) | |
| 1 | g.209629839C= | CA2484300847 | LAMB3 | c.1030G= (p.Asp344=) c.838G= (p.Asp280=) | |
| 1 | g.209629839C>G | CA344592559 | LAMB3 | c.1030G>C (p.Asp344His) c.838G>C (p.Asp280His) | |
| 1 | g.209629839C>T | CA344592560 | LAMB3 | c.1030G>A (p.Asp344Asn) c.838G>A (p.Asp280Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629846_209629847dup | CA16040696 | LAMB3 | c.1029_1030dup (p.Asp344ValfsTer?) c.837_838dup (p.Asp280ValfsTer?) | dbSNP |
| 1 | g.209629846_209629847del | CA2697554893 | LAMB3 | c.1029_1030del (p.Cys343Ter) c.837_838del (p.Cys279Ter) | dbSNP |
| 1 | g.209629839_209629840insTGTT | CA2569788114 | LAMB3 | c.1029_1030insAACA (p.Asp344AsnfsTer14) c.837_838insAACA (p.Asp280AsnfsTer14) | |
| 1 | g.209629840A= | CA2484300848 | LAMB3 | c.1029T= (p.Cys343=) c.837T= (p.Cys279=) | |
| 1 | g.209629840A>C | CA344592562 | LAMB3 | c.1029T>G (p.Cys343Trp) c.837T>G (p.Cys279Trp) | |
| 1 | g.209629840A>G | CA423032278 | LAMB3 | c.1029T>C (p.Cys343=) c.837T>C (p.Cys279=) | |
| 1 | g.209629840A>T | CA16040697 | LAMB3 | c.1029T>A (p.Cys343Ter) c.837T>A (p.Cys279Ter) | ClinVar dbSNP |
| 1 | g.209629841C>A | CA344592563 | LAMB3 | c.1028G>T (p.Cys343Phe) c.836G>T (p.Cys279Phe) | |
| 1 | g.209629841C>G | CA344592564 | LAMB3 | c.1028G>C (p.Cys343Ser) c.836G>C (p.Cys279Ser) | |
| 1 | g.209629841C>T | CA344592565 | LAMB3 | c.1028G>A (p.Cys343Tyr) c.836G>A (p.Cys279Tyr) | |
| 1 | g.209629842A>C | CA344592566 | LAMB3 | c.1027T>G (p.Cys343Gly) c.835T>G (p.Cys279Gly) | |
| 1 | g.209629842A>G | CA344592567 | LAMB3 | c.1027T>C (p.Cys343Arg) c.835T>C (p.Cys279Arg) | |
| 1 | g.209629842A>T | CA344592568 | LAMB3 | c.1027T>A (p.Cys343Ser) c.835T>A (p.Cys279Ser) | |
| 1 | g.209629843C>A | CA423032282 | LAMB3 | c.1026G>T (p.Val342=) c.834G>T (p.Val278=) | |
| 1 | g.209629843C>G | CA423032283 | LAMB3 | c.1026G>C (p.Val342=) c.834G>C (p.Val278=) | |
| 1 | g.209629843C>T | CA423032285 | LAMB3 | c.1026G>A (p.Val342=) c.834G>A (p.Val278=) | |
| 1 | g.209629844A>C | CA344592569 | LAMB3 | c.1025T>G (p.Val342Gly) c.833T>G (p.Val278Gly) | |
| 1 | g.209629844A>G | CA344592570 | LAMB3 | c.1025T>C (p.Val342Ala) c.833T>C (p.Val278Ala) | |
| 1 | g.209629844A>T | CA344592571 | LAMB3 | c.1025T>A (p.Val342Glu) c.833T>A (p.Val278Glu) | |
| 1 | g.209629845C>A | CA344592573 | LAMB3 | c.1024G>T (p.Val342Leu) c.832G>T (p.Val278Leu) | |
| 1 | g.209629845C>G | CA344592574 | LAMB3 | c.1024G>C (p.Val342Leu) c.832G>C (p.Val278Leu) | |
| 1 | g.209629845C>T | CA344592572 | LAMB3 | c.1024G>A (p.Val342Met) c.832G>A (p.Val278Met) | |
| 1 | g.209629846A>C | CA423032286 | LAMB3 | c.1023T>G (p.Gly341=) c.831T>G (p.Gly277=) | |
| 1 | g.209629846A>G | CA423032288 | LAMB3 | c.1023T>C (p.Gly341=) c.831T>C (p.Gly277=) | COSMIC |
| 1 | g.209629846A>T | CA423032289 | LAMB3 | c.1023T>A (p.Gly341=) c.831T>A (p.Gly277=) | |
| 1 | g.209629847C>A | CA344592577 | LAMB3 | c.1022G>T (p.Gly341Val) c.830G>T (p.Gly277Val) | |
| 1 | g.209629847C>G | CA344592575 | LAMB3 | c.1022G>C (p.Gly341Ala) c.830G>C (p.Gly277Ala) | |
| 1 | g.209629847C>T | CA344592576 | LAMB3 | c.1022G>A (p.Gly341Asp) c.830G>A (p.Gly277Asp) | |
| 1 | g.209629848C>A | CA344592578 | LAMB3 | c.1021G>T (p.Gly341Cys) c.829G>T (p.Gly277Cys) | |
| 1 | g.209629848C>G | CA344592579 | LAMB3 | c.1021G>C (p.Gly341Arg) c.829G>C (p.Gly277Arg) | |
| 1 | g.209629848C>T | CA344592580 | LAMB3 | c.1021G>A (p.Gly341Ser) c.829G>A (p.Gly277Ser) | |
| 1 | g.209629849T>A | CA423032292 | LAMB3 | c.1020A>T (p.Gly340=) c.828A>T (p.Gly276=) | |
| 1 | g.209629849T>C | CA423032293 | LAMB3 | c.1020A>G (p.Gly340=) c.828A>G (p.Gly276=) | |
| 1 | g.209629849T>G | CA423032294 | LAMB3 | c.1020A>C (p.Gly340=) c.828A>C (p.Gly276=) | |
| 1 | g.209629850C>A | CA344592581 | LAMB3 | c.1019G>T (p.Gly340Val) c.827G>T (p.Gly276Val) | |
| 1 | g.209629850C>G | CA344592582 | LAMB3 | c.1019G>C (p.Gly340Ala) c.827G>C (p.Gly276Ala) | |
| 1 | g.209629850C>T | CA344592583 | LAMB3 | c.1019G>A (p.Gly340Glu) c.827G>A (p.Gly276Glu) | |
| 1 | g.209629851C>A | CA344592584 | LAMB3 | c.1018G>T (p.Gly340Ter) c.826G>T (p.Gly276Ter) | |
| 1 | g.209629851C= | CA2484300849 | LAMB3 | c.1018G= (p.Gly340=) c.826G= (p.Gly276=) | |
| 1 | g.209629851C>G | CA344592585 | LAMB3 | c.1018G>C (p.Gly340Arg) c.826G>C (p.Gly276Arg) | |
| 1 | g.209629851C>T | CA344592586 | LAMB3 | c.1018G>A (p.Gly340Arg) c.826G>A (p.Gly276Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629852A= | CA2484300850 | LAMB3 | c.1017T= (p.Tyr339=) c.825T= (p.Tyr275=) | |
| 1 | g.209629852A>C | CA1375717 | LAMB3 | c.1017T>G (p.Tyr339Ter) c.825T>G (p.Tyr275Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629852A>G | CA423032298 | LAMB3 | c.1017T>C (p.Tyr339=) c.825T>C (p.Tyr275=) | COSMIC |